All individuals with variants in gene EEF1A2

12 entries on 1 page. Showing entries 1 - 12.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
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Age at death     
VIP     
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Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00183076 23033978-Trio91 PubMed: de Ligt 2012 - F - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00239789 XYHF4P1 - - M no China - 03y - - - DEE33 - 1 1 Yin Xiaomeng
00269540 - PubMed: Minardi 2020 - M - Italy - - - - - EE Epileptic encephalopathy (HP:0200134) 1 1 Francesca Bisulli
00296405 - - - M - - - - - - - ? Autism (HP:0000717); Global developmental delay (HP:0001263) 1 1 IMGAG
00301263 - PubMed: Minardi 2020 - M - Italy - - - - - EIEE - 1 1 Francesca Bisulli
00302989 Pat34 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic Encephalopathy, Lennox-Gastaut syndrome; age onset childhood 1 1 Johan den Dunnen
00302990 Pat35 PubMed: Helbig 2016 - - - United States - - - - - seizures Focal epilepsy, temporal lobe epilepsy; age onset infantile 1 1 Johan den Dunnen
00427812 PatB PubMed: Veeramah 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - EE gestational diabetes (insulin), hypertension; birth at term, C-section; seizures multifocal myoclonic, generalized myoclonic; 8m-infantile spasms, responsive to pyridoxine, 3y-myoclonic, 4y-myoclonic/tonic, later atonic, generalized tonic-clonic, now refractory; EEG multifocal sharp waves, generalized spike-wave to hypsarrhythmia to pattern of Lennox-Gastaut syndrome (multifocal spikes, runs of slow spike-wave, generalized spike-wave bursts and periods of diffuse supression); epileptic encephalopathy, acquired microcephaly (<2nd percentile); severe delay with episodic regression; nonverbal, limited comprehension; hypotonia, with increased ankle tone; incoordination, gait instability 1 1 Johan den Dunnen
00440408 PED0047.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00447938 Pat6 PubMed: Ostrander 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - EIEE see paper; ..., global developmental delay, dysphagia, quadriparetic spastic cerebral palsy; seizure types migrating partial seizures, myoclonic, flexor spasm; EEG Generalized and multifocal spike wave discharges; MRI brain normal 1 1 Johan den Dunnen
00467612 - - - F - - (not applicable) white - - - - NDD HP:0001249, HP:0001250, HP:0001263, HP:0031491 1 1 Marketa Wayhelova
00468844 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
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